📂 Diseases
hyperphosphatasia with mental retardation syndrome 6; HPMRS6 — Definition
Mental Retardasyonlu Hiperfosfatazi Sendromu 6; HPMRS6 / hyperphosphatasia with mental retardation syndrome 6; HPMRS6
Alkalen phosphatease is a rare genetic disease characterized by mental insufficiency and developmental delay, which is permanently higher than enzyme levels. Often hypotoni (low muscle tone), seizures and characteristic facial appearance (hypertelorism, large nasal root) are observed in patients. Autozomal shows the resessive inheritance and is caused by mutations in PGAP2 or PGAP3 genes. The diagnosis is confirmed by clinical findings and high serum alkalen phosphatease level as well as genetic tests.
Frequently Asked Questions
❓ What is Mental Retardasyonlu Hiperfosfatazi Sendromu 6; HPMRS6?
Mental Retardasyonlu Hiperfosfatazi Sendromu 6; HPMRS6; alkalen phosphatease is a rare genetic disease characterized by mental insufficiency and developmental delay, which is permanently higher than enzyme levels. Often hypotoni (low muscle tone), seizures and characteristic facial appearance (hypertelorism, large nasal root) are observed in patients. Autozomal shows the resessive inheritance and is caused by mutations in PGAP2 or PGAP3 genes. The diagnosis is confirmed by clinical findings and high serum alkalen phosphatease level as well as genetic tests.
❓ What is hyperphosphatasia with mental retardation syndrome 6; HPMRS6 in Turkish?
The Turkish equivalent of "hyperphosphatasia with mental retardation syndrome 6; HPMRS6" is Mental Retardasyonlu Hiperfosfatazi Sendromu 6; HPMRS6.
❓ Which medical field is Mental Retardasyonlu Hiperfosfatazi Sendromu 6; HPMRS6 related to?
This term belongs to the Diseases category.